Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan, Republic of Korea.
Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 5;153B(3):736-44. doi: 10.1002/ajmg.b.31041.
The Protocadherin 11X/Y (PCDH11X/Y) gene pair has been proposed as a carrier of the variation relating to cerebral asymmetry and psychosis on the ground that the Y gene was generated by duplication at 6 million years (close to the chimpanzee-human separation) and there is a case for an X/Y determinant of cerebral asymmetry. The present article investigated the patterns of alternative splicing and expression of the PCDH11X/Y genes. Twelve alternative transcripts of PCDH11X/Y genes were presently identified by in silico analysis. To investigate the biological roles of alternative transcripts of PCDH11X/Y genes, the transcripts were analyzed by real-time reverse transcription-polymerase chain reaction amplification. A total of 31 normal tissues including 11 different regions of human brain were used to investigate a wide spectrum of expression profiles. Dominant expression patterns were identified in several tissues (Tx1-fetal liver; Tx3-adult brain; Tx4-adult brain and kidney; Tx5-bone marrow; Ty1-fetal brain; Ty2-adrenal gland). Tx4 transcripts showed specific expression patterns in olfactory tissues. The findings can guide functional investigation of neuropsychiatric disorders.
原钙黏蛋白 11X/Y（PCDH11X/Y）基因对被认为是与大脑不对称和精神病相关变异的载体，因为 Y 基因是在 600 万年前（接近黑猩猩-人类分离）通过复制产生的，并且有一个 X/Y 决定大脑不对称的案例。本文研究了 PCDH11X/Y 基因的选择性剪接和表达模式。通过计算机分析，目前确定了 12 种 PCDH11X/Y 基因的选择性剪接转录本。为了研究 PCDH11X/Y 基因选择性剪接转录本的生物学作用，通过实时逆转录-聚合酶链反应扩增对转录本进行了分析。使用 31 种正常组织，包括人脑的 11 个不同区域，来研究广泛的表达谱。在几种组织中鉴定出了优势表达模式（Tx1-胎肝；Tx3-成人脑；Tx4-成人脑和肾；Tx5-骨髓；Ty1-胎脑；Ty2-肾上腺）。Tx4 转录本在嗅觉组织中表现出特定的表达模式。这些发现可以为神经精神疾病的功能研究提供指导。
